Family in China Has Two vEDS-causing COL3A1 Mutations

A family in China was found to carry two mutations causing vascular Ehlers-Danlos syndrome (vEDS) over multiple generations, a study reports. The mutations interacted such that their effect was beyond that of each mutation alone. “This is the first report of such a combination ever described to cause vEDS…

Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…

Pregnancy and EDS: What Should I Keep in Mind?

If you have Ehlers-Danlos syndrome (EDS), you likely know that the laxity of your tissues, and other symptoms, could present challenges during pregnancy. If you do decide to conceive, careful planning and management are key. What is EDS? EDS is a group of genetic disorders that affect…